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Mosaic tetraploidy in a two‐year‐old female
Author(s) -
Kelly Thaddeus E.,
Rary Jack M.
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb00655.x
Subject(s) - ploidy , biology , buccal swab , peripheral blood , genetics , bone marrow , karyotype , in vitro , chromosome , immunology , gene
A 24‐month‐old female with severe physical and mental retardation is described. Peripheral lymphocytes demonstrated tetraploid/diploid mosaicism. That this does not represent an artifact in vitro was supported by the finding of buccal mucosal cells with two Barr bodies and tetraploid/diploid mosaicism in fibroblasts and bone marrow cells.